Heterozygous loss-of-function variants in IFT140 are associated with polycystic kidney disease
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Submitter Only - Nour Baddar, PhD; Co-Author - Dinah Clark, MS; Co-Author - Karen Phaik Har Lim, PhD; Co-Author - Lili Li, MD, PhD; Co-Author - Lisa Vincent, PhD, FACMG; Co-Author - Jing Xie, PhD; Co-Author - Yuan Xue, PhD, FACMG; Presenting Author - Sumit Punj, PhD, FACMG;
Meta Tag
Genetic Testing
NextGen Sequencing
Variant Detection
Co-Author Dinah Clark, MS
Co-Author Karen Phaik Har Lim, PhD
Co-Author Lili Li, MD, PhD
Co-Author Lisa Vincent, PhD, FACMG
Co-Author Jing Xie, PhD
Co-Author Yuan Xue, PhD, FACMG
Presenting Author Sumit Punj, PhD, FACMG
Submitter Only Nour Baddar, PhD
Keywords
IFT140 loss-of-function variants
polycystic kidney disease
genetic testing
renal gene panel
cystic phenotype
cystic disease-associated genes
CKD stages
mild PKD phenotypes
chronic kidney disease
ADPKD

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